eastern european (ashkenazi) jewish ancestry. reasons for
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CARRIER SCREENING FOR ASHKENAZI JEWISH DISEASES
Ashkenazi Jewish carrier screening helps to identify carriers for
inherited genetic conditions that occur frequently in individuals with
Eastern European (Ashkenazi) Jewish ancestry.
GenPath’s Expanded Ashkenazi Jewish carrier panel screens for 47
disorders.The clinical presentations of the disorders on the panel are:
• Mostly severe, often with childhood onset and are inherited in an
autosomal recessive manner.
• For some, clinically managed treatment can significantly improve
quality of life.
Reasons for testing • Testing will identify carriers of a genetic
disorder, who are typically healthy individuals
who show no sign of disease.
• Carriers, although healthy, can have children
with the disease and its symptoms, if the
partner is also a carrier.
• Some diseases cause physical and mental
impairment, have a shortened lifespan or
require lifelong treatment and management.
According to The American College of Medical Genetics (ACMG),
1 in 4 Ashkenazi Jews is a carrier of a genetic disorder.1
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As Technology Evolves,So Does Our Carrier Testing
P659 Ashkenazi Jewish 18 Profile (with carrier frequency rates)
Bloom Syndrome - 1/107 Joubert Syndrome - 1/92
Canavan Disease - 1/55Maple Syrup Urine Disease
(Type 1A & 1B)- 1/80
Cystic Fibrosis (Expanded CF) 1/24
Mucolipidosis (Type IV) - 1/96
Dihydrolipoamide Dehydrogenase Deficiency - <1/80
Nemaline Myopathy 2 - <1/108
Familial Dysautonomia - <1/52Niemann-Pick Disease
(Type A & B) - 1/90
Familial Hyperinsulinism - 1/67 Tay-Sachs Disease - 1/28
Fanconi Anemia, Type C - 1/127 Usher Syndrome Type 1F - 1/140
Gaucher Disease - 1/15 Usher Syndrome Type 3 - 1/140
Glycogen Storage Type IA (GSDIA) 1/71
Walker-Warburg Syndrome - 1/144
Reference:1. Carrier screening in Individuals of Ashkenazi Jewish Descent. ACMG Practice Guidelines. American College of Medical Genetics, and Genomics. Genet Med 2008 10:1:54-56.
481 Edward H Ross Drive | Elmwood Park, NJ 07407 | 1 800 633 4522 tel | 1 201 345 7152 fax | www.genpath.comGenPath is a business unit of BioReference Laboratories.
© 2016 BioReference Laboratories, Inc. All rights reserved. 80073 08/2016
1. Inheritance Autosomal recessive
2. Methodology Genotyping by Next-generation sequencing (NGS)
3. Test Code P659-Ashkenazi Jewish 18 Profile J293-Expanded Ashkenazi Jewish Profile
4. TAT 12-14 days
5. Requirements One full EDTA (Lavender top) tube or Oral rinse
J293 Expanded Ashkenazi Jewish Profile(Includes Ashkenazi Jewish 18 disorders plus below
tests with carrier frequency rates)
Abetalipoproteinemia - 1/131Hermansky-Pudlak Syndrome 3
1/235
Alport Syndrome, Autosomal Recessive - 1/183
Mitochondrial Complex I Deficiency - 1/291
Arthrogryposis, Mental Retardation, & Seizures - 1/373
Multiple Sulfatase Deficiency 1/320
Bardet-Biedl Syndrome 2 - 1/136Osteopetrosis, Autosomal
Recessive 1 - 1/350
Carnitine Palmitoyltransferase Deficiency, Type 2 - 1/43
Peroxisome Biogenesis Disorder 5A (Zellweger) - 1/123
Ciliary Dyskinesia, Primary 1 - 1/357 Phenylketonuria (PKU) - 1/225
Coenzyme Q10 Deficiency, Primary 7 - 1/151
Phosphoglycerate Dehydrogenase Deficiency - 1/280
Congenital Amegakaryocytic Thrombocytopenia (CAMT) - 1/55
Polycystic Kidney Disease, Autosomal Recessive (ARPKD)
1/108
Deafness, Autosomal Recessive 1A (GJB2) - 1/21
Retinitis Pimentosa 59 - 1/120
Dyskeratosis Congenita, Autosomal Recessive 5 - 1/204
Smith-Lemli-Opitz Syndrome 1/37
Ehlers-Danos Syndrome, Type VIIC - 1/501
Spastic Tetraplegia, Thin Corpus Callosum & Progressive
Microcephaly - 1/118
Factor XI Deficiency (Hemophilia C) - 1/11
Spinal Muscular Atrophy (SMA) 1/41
Familial Hypercholesterolemia, Homozygous, LDLR-Associated
1/130 Tyrosinemia, Type 1 - 1/100
Familial Mediterranean Fever - 1/5 Wilson Disease - 1/100
Galactosemia - 1/127
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